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在多重硫酶缺乏症中,疾病严重程度的生物化学特征

Laura A Adang¹, Samar Mowafy^2,3, Zackary M Herbst²

¹Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Journal of inherited metabolic disease

|October 23, 2023

概括

剩余的硫酸酶活性和肝素硫酸盐 (HS) 积累模式可以将多重硫酸酶缺乏症 (MSD) 患者与对照者区分开来,并分层疾病严重程度. 这些发现提供了关于硫酸酶调节和临床试验潜在生物标志物的见解.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
神经科学是一个神经科学.

背景情况:

硫酶是细胞功能的关键酶,包括糖氨基甘油 (GAG) 降解.
多重硫酶缺乏症 (MSD) 是一种神经退行性溶酶体储存疾病,由形成糖氨酸生成酶 (FGE) 缺乏引起.
由于差异性FGE-依赖的翻译后修饰,个体的硫酶活性水平可能会有所不同,从而影响MSD的临床谱.

研究的目的:

调查剩余硫酶活性和GAG积累模式是否可以将MSD病例与对照区分开来.
确定这些模式是否与MSD患者的临床严重程度相关.
探索硫酸酶基质作为MSD生物标志物的潜力.

主要方法:

使用三种互补的方法量化MSD参与者的硫酶活动和GAG积累.
分析残留硫酸酶活性及其对FGE中介活性降低的耐受性.
评估尿液GAG亚种的积累模式.

主要成果:

硫酸酶在它们对降低FGE激活的耐受性方面表现出显著的变化.
与其他硫酸酶相比,肝硫酸盐 (HS) 降解酶的残留活性较低.
来自HS的尿路GAG亚种的积累有效地将MSD病例与对照区分开来,并与疾病严重程度相关联.

结论:

不同的残留硫酸酶活动和基质积累模式是MSD的特征.
由HS衍生的GAG积累作为区分MSD和评估疾病严重程度的潜在生物标志物.
这些发现为硫酸酶调节提供了基本的见解,并为MSD临床试验推进生物标志物开发.

关键词:

生物标志物生物标志物代谢过程中的先天性错误.患有白血病的病例包括白血病.溶酶体储存障碍溶酶体储存障碍

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